A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
Sillén
A
A
Department of Clinical Genetics, Uppsala University Childrens Hospital, Sweden.
Annerén
G
G
Dahl
N
N
D017668:Age of Onset; D019943:Amino Acid Substitution; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D004247:DNA; D008565:Membrane Proteins; D000097002:Gap Junction beta-1 Protein